Articles tagged with Genetic Testing
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The NCI-backed Molecular Targets Platform streamlines and catalyzes drug development by integrating pediatric cancer targets and pathways. This platform empowers researchers, pharmaceutical companies, and advocacy groups to accelerate the pace of drug development for pediatric cancer.
A VA study found nearly identical genetic variations contributing to coronary heart disease risk across major racial and ethnic backgrounds. The findings suggest that other factors like access to healthcare contribute to higher heart disease rates in certain populations.
A new Bayesian method and genomic data analysis reveal strong statistical support for the 'Pleistocene aggregate island complex (PAIC) model', a theory suggesting species diversification during ice ages. This study tested the PAIC model in two genera of lizards, each with species found only in the Philippines.
A study found that pharmacogenomic testing can help providers avoid prescribing antidepressants with undesirable outcomes. The test, which analyzes genes related to drug metabolism, resulted in a significant improvement in depression symptoms compared to usual care.
A study reveals how consumer DNA testing is changing the way people seek information about genetic relatives in donor conception, including ethnic estimates and tracing half-siblings. The widespread availability of commercial DNA databanks is transforming the landscape of donor conception.
Researchers investigate regulatory frameworks governing preimplantation genetic testing in Japan, the UK, and Western Australia. The study highlights the need for a multidisciplinary approach to evaluate disease severity and make informed decisions about treatment.
A preliminary study published in eLife suggests that sperm screening can identify potentially harmful new genetic mutations and help prevent them from being passed on to offspring. The study found that 55 mutations were detected in the men's sperm, including 15 passed on to an embryo.
A heat-loving bacterium's Cas13 protein enables specific detection of SARS-CoV-2 and other viruses in a one-pot assay. The technology has been patented and clinically validated, with the aim of mass production and commercialization.
A new digital PCR technique helps identify mutations in malaria parasites that evade detection by rapid tests, reducing false negatives. This allows for more accurate selection of diagnostic tests tailored to specific regions.
Researchers have developed an app to help doctors identify patients with chronic lymphocytic leukemia (CLL) at risk of developing infections, allowing for earlier treatment. The app uses blood test results and genetic data to predict patient risk, improving treatment outcomes and reducing pressure on the healthcare system.
Researchers used nanopore sequencing to detect specific genomic disorders in a fraction of the time it takes traditional testing. The study showed that diagnosis of larger chromosomal alterations could be made in one day, while smaller CNVs took two days.
Researchers evaluate Jumpcode Genomics CRISPRclean technology for transforming pandemic response through highly sensitive testing. The assay quickly identifies variant strain types and individual host responses in a single workflow.
A new study examines mathematical models designed to draw inferences about how evolution operates at the level of populations of organisms. The researchers conclude that such models must be constructed with care, avoiding unwarranted initial assumptions and weighing existing knowledge.
Early genetic testing and precision medicine lead to improved seizure control, enabling infants with epilepsy to leave the hospital sooner. A study at Ann & Robert H Lurie Children's Hospital of Chicago found a significant reduction in hospital stay time for babies with epilepsy who underwent genetic testing.
Researchers emphasize the need for targeted recruitment to make genetic tests clinically useful for non-European groups. By addressing cultural concerns and underrepresentation, efforts can reduce the incidence of variants of uncertain significance (VUS) in genetic databases.
Researchers developed a genetic test that diagnoses primary immunodeficiency disorders (PID), revealing inherited genetic defects in nearly half of patients. The test uses next-generation sequencing technology to identify specific gene variants associated with PID, enabling targeted treatment and earlier intervention for family members.
A large study has found six predictors that can help determine the optimal lithium dose for patients with bipolar disorder. The predictors include age, sex, kidney function, and medication use. The researchers hope to develop a digital app to aid psychiatrists in finding the right dose.
A study published in Med found that the human microbiome's variation explains different patient responses to statins. The researchers discovered a Bacteroides enriched microbiome with lower diversity was associated with stronger LDL-lowering effects but greater disruption of blood glucose levels.
Researchers at Texas A&M AgriLife Research have developed a mechanism to make temporary genetic changes in mosquitoes that self-delete over time. This technology has the potential to help manage mosquito populations and prevent vector-borne diseases like West Nile virus without permanently altering wild populations' genetic makeup.
The US Multisociety Task Force on Colorectal Cancer recommends genetic evaluation and personalized surveillance plans for patients with hamartomatous polyps. Genetic testing is critical in cancer prevention, allowing for tailored cancer surveillance to prevent progression and save lives.
A study found that 12% of recurrent ductal carcinoma in situ (DCIS) cases were new primary lesions unrelated to the original tumor. These findings suggest that genetic biomarkers for predicting recurrence may not be effective for all patients.
Researchers analyzed genomic profiles of over one million cells from 1,000 people, identifying a link between specific genes and immune cell types in autoimmune diseases. The discovery could lead to tailored treatments and refine clinical trials.
The Victoria's Secret Global Fund for Women's Cancers has awarded five female researchers for their groundbreaking work on breast and gynecologic cancers. The recipients will receive a $100,000 honorarium and be invited to participate in a broader women's cancers grant program.
A recent study published in Translational Psychiatry found that pharmacogenetic testing significantly improved symptoms in patients with treatment-resistant depression. The study involved 276 patients and showed a nearly two-fold increase in remission rates compared to treatment as usual.
A recent brain imaging study has found evidence of weakening connections between key brain areas in adolescents at high genetic risk of developing bipolar disorder. This study suggests that early intervention strategies may be effective in preventing the progression towards major changes in the brain.
A report by the British Pharmacological Society and Royal College of Physicians recommends integrating pharmacogenomic testing to ensure medicines work safely and effectively for individual patients. The UK is a world leader in genomic medicine, and expanded testing would further demonstrate this leadership.
Dr. Kushani Jayasinghe, a nephrologist and trainee in clinical genetics, received the 2022 Richard King Award for her article on genomic testing in patients with suspected monogenic kidney disease. The award recognizes high-quality research published in Genetics in Medicine by trainees.
Carly Peterson, a genetic counseling graduate student, received the 2022 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award. Her platform presentation explored parenting stress in raising children with sex chromosome aneuploidies, using data from the eXtraordinarY Babies Study.
The ACMG Foundation presented four Next Generation Fellowship Awards to outstanding individuals in medical genetics and genomics. Ibrahim Elsharkawi and Jessica Priestley received the awards for their dedication to biochemical genetics, with support from Bionano Genomics, Spark Therapeutics, Takeda, Sanofi-Genzyme, and Pfizer.
A new study confirms that abnormalities in the GDF15 gene are involved in hyperemesis gravidarum, a condition causing severe nausea and vomiting during pregnancy. The discovery may lead to targeted treatments and improved care for women with HG.
A study has decoded the DNA of the Arabian Oryx, a vulnerable species that was on the brink of extinction. The researchers analyzed the genetic data to inform breeding programs and found moderate diversity in the population's gene pool.
Researchers have genetically engineered a rat model of Down syndrome to test new therapies and explore the condition's unique genetics. The rats exhibit cognitive impairments, anxiety, and hyperactivity similar to humans with Down syndrome, providing a valuable tool for medical research.
The study identifies nine key pathways that seem to be crucial in developing Parkinson's disease, some of which have not been linked before. The findings improve scientists' understanding of genetic risk factors for developing the disease and pave the way for personalized medicine.
Researchers at Clemson University have identified a genetic variation associated with congenital idiopathic megaesophagus (CIM) in German shepherd dogs, which is often fatal if left untreated. A genetic test using melanin-concentrating hormone receptor 2 and dog's sex can predict the risk of CIM with 75% accuracy.
Researchers at Kyoto University have identified a genetic mutation causing albinism in wallabies, tracing it to an inserted retrovirus gene. The study found that the mutation was caused by a copy of the HIV-like virus inserted into the host's genome.
Scientists developed a novel approach to securely share and analyze genomic data, enabling a more nuanced understanding of heritable diseases like cancer. This 'federated analysis' method allows researchers to analyze large amounts of genomic and clinical data without compromising patient privacy.
A recent study published in Applied In Vitro Toxicology found that tobacco-free nicotine pouches exhibit reduced levels of toxicants and biological activity compared to combustible cigarette smoke. The products, manufactured by Imperial Brands, showed substantially reduced genotoxicity and cytotoxicity in three toxicological assays.
Researchers found that a community-based approach to reporting APOL1 genetic test results resulted in lower blood pressure readings among hypertensive patients. This trial suggests that involving communities in genetic testing could be beneficial for reducing the risks of chronic kidney disease.
The SynGAP Research Fund has developed a pre-screening tool to identify potential SYNGAP1 patients through a free online survey. The partnership with Probably Genetic aims to screen undiagnosed patients and provide them with genetic testing resources, ultimately advancing treatment development for SYNGAP1.
Researchers from Skoltech identified four genetic markers that can predict tocopherol composition in sunflower lines, which is crucial for producing high-quality dressing and cooking oils. This breakthrough discovery will help facilitate faster breeding of new varieties.
Researchers surveyed over 26,000 genetic genealogy participants about their experiences discovering previously unknown relatives. Most reported learning the identity of at least one relative, with some finding close family ties and others experiencing life-changing discoveries.
A team of scientists used genetic testing to uncover the tactics of international criminal networks behind ivory trafficking out of Africa. The analysis linked most large ivory shipments to a handful of interconnected smuggling networks, expanding efforts to track and seize illicit shipments.
Researchers developed a methodology to compress extensive genetic data libraries, reducing their size while preserving essential information.
Pulmonary lymphangioleiomyomatosis (LAM) is a rare cancer affecting up to 1 in 1 million women worldwide, characterized by uncontrolled tumor cell growth. Researchers aim to identify new therapeutic targets using extracellular vesicles, with the goal of developing new therapies for LAM patients.
A new DNA benchmark, developed by NIST and collaborators, enables more accurate detection of genetic variants linked to diseases such as spinal muscular atrophy. The benchmark, based on HiFi sequencing technology, helps labs and clinics sequence genes with high accuracy, critical for disease diagnosis and treatment.
Researchers found that dietary intake of flavan-3-ols activates brown adipose tissue, leading to increased heat production and fat burning. Long-term consumption of flavanol-rich foods may also lead to the development of a healthier metabolism.
Researchers have discovered a new method to predict heart attacks by analyzing the gene expression of foamy macrophages, revealing a person's cardiovascular health. The study found that foamy cells can be both beneficial and detrimental depending on their behavior in individuals with certain conditions.
Researchers at Johns Hopkins Medicine have successfully transplanted a kidney from a COVID-19 donor, demonstrating that healthy kidneys from such donors can be safely transplanted. The recipient has shown no signs or symptoms of the virus and has excellent kidney function since the transplant.
A single genetic test using RNA sequencing has been used for all children with cancer in the Netherlands since 2018, improving diagnosis and treatment in seven cases. The technique picked up 78 fusion genes, 23 of which led to a more accurate diagnosis or possible treatment.
A DNA sequencing study of 50 patients with cerebral palsy found a genetic cause in 26% of cases. The study identified 13 different genes associated with the condition. Genetic findings led to changes in patient care plans and urged clinicians to consider genetic causes for CP without known risk factors.
A randomized controlled trial of combinatorial pharmacogenetics testing found no significant improvement in depressive symptoms among adolescents with depression. However, the study suggests that testing results may influence physician decision-making and could be useful in specific cases where individual gene-drug pairs impact clinica...
The use of polygenic risk scores in pre-implantation genetic testing is unproven and can lead to discrimination and stigmatization. ESHG argues that there is no evidence PRSs can predict disease likelihood in unborn children, making their application premature.
Researchers analyzed DNA sequences and electronic health records of thousands of individuals to discover that the chance a pathogenic genetic variant may cause a disease is relatively low, about 7 percent. However, some variants are linked to wide range of risks for disease.
A new study published in Mammalian Biology analyzed the life history data of 13 North Atlantic right whales using genetic samples and photo identification. The researchers found that four calves previously thought to be dead survived, revealing a significant variation in calf separation time from mothers and physical development.
A recent study published in Science Translational Medicine identified a novel causative gene, BAG5, for dilated cardiomyopathy, a leading cause of heart failure. The researchers found that mutations in this gene can lead to cardiomyopathy and found a potential treatment alternative using adeno-associated viruses (AAV) gene therapy.
A new machine learning model, RefMap, has identified 690 genetic risk factors for motor neurone disease, a five-fold increase from previous estimates. This discovery could lead to the development of new treatments and personalized medicine for patients with MND.
Researchers found that flavanols activate brown adipose tissue, causing it to burn calories and produce heat. Long-term consumption of flavanols increased the levels of heat-related proteins in mice, suggesting a potential therapeutic effect against obesity-related diseases.
A large field hospital study shows that a rapid Covid-19 test is as accurate as PCR detection, with high sensitivity rates for both symptomatic and asymptomatic patients. The rapid antigen test's ease of use, time savings, and cost effectiveness make it an ideal solution to reduce testing disparities in medically underserved communities.
A Michigan Medicine study combined genetic samples from patients of different ethnic backgrounds, identifying two new psoriasis genetic signals. The inclusion of South Asian subjects allowed researchers to pinpoint several genetic variations within HLA genes that are likely to play a causal role in psoriasis.
Researchers genetically mapped the cell types of the mouse iris, revealing four new cell types and mapping genetic changes that occur when the iris dilates. This research may help connect genetic similarities between mice and humans, offering clues for developing new diagnostic tests and treatments for eye diseases.